A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4011213



Internal ID22072844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44278911..44325252hg38UCSC Ensembl
Outerchr2:44276990..44332416hg38UCSC Ensembl
Innerchr2:44506050..44552391hg19UCSC Ensembl
Outerchr2:44504129..44559555hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3855427
hg1955427
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155465
Supporting Variants
Samples
Known GenesPREPL, SLC3A1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4011213
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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